LOVD SLC26A4 homepage

General information
Gene name solute carrier family 26, member 4
Gene symbol SLC26A4
Chromosome Location 7q31
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the SLC26A4 database
Date of creation December 29, 2006
Last update April 23, 2010
Version SLC26A4 100423
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000007.12
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 189
Total number of individuals with variant(s) 3
Total number of variants reported 191
Subscribe to updates of this gene

Graphical displays and utilities
Summary tables Summary of all sequence variants in the SLC26A4 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the SLC26A4 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the SLC26A4 database
Variants with no known pathogenicity Listing of all SLC26A4 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
External link #1 Pendred/BOR homepage
External link #2 Deafness Gene Mutation Database
External link #3 The Hereditary Hearing loss Homepage
External link #4 Reference mRNA NM_000441.1
External link #5 Reference protien NP_000432.1
Entrez Gene 5172
OMIM - Gene 605646
UniProtKB (SwissProt/TrEMBL) O43511
HGMD SLC26A4
GeneCards SLC26A4
GeneTests SLC26A4

For research use. Husami et al. 2006-2010